Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.G12V

PHEX

452 papers

RefSeq Summary

The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and d...

Pfam Domains

Peptidase_M13_Naa 76–479UCSCPeptidase family M13
Peptidase_M13aa 538–748UCSCPeptidase family M13

Gene Aliases

HGNC Name

phosphate regulating endopeptidase X-linked

HGNC Previous Symbols

HYP; HPDR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000444.6
p.G12V
c.35G>T
Surrounding Variants
1 paper
NM_000444.6
p.G12A
c.35G>C
1 paper
NM_000444.6
p.G12delFs
c.36delA
1 paper
NM_000444.6
p.K13insFs
c.37_38insC
2 papers
NM_000444.6
p.T11fs
c.31_32fs
2 papers
NM_000444.6
p.E10fs
c.28_29fs
2 papers
NM_000444.6
p.A15_N16del2
c.43_47del6
2 papers
NM_000444.6
p.V9_E10insFs
c.27_28insA
1 paper
NM_000444.6
p.N16_G18del3
c.46_53del9
1 paper
NM_000444.6
p.V9M
c.25G>A
2 papers
NM_000444.6
p.E10_G12delFs
c.30_36del7
2 papers
NM_000444.6
p.S8S
c.24C>T
1 paper
NM_000444.6
p.R17_G18del2
c.49_53del6
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."